GENETICS

Introduction to Genetics
• GENETICS – branch of biology that deals with
heredity and variation of organisms.

• Chromosomes carry the hereditary

information (genes)
• Chromosomes (and genes) occur in pairs Homologous
Chromosomes
• New combinations of genes occur in sexual
reproduction
– Fertilization from two parents
 Gregor Johann Mendel
• Austrian Monk, born in what is now Czech Republic in 1822
• Son of peasant farmer, studied
Theology and was ordained
priest Order St. Augustine.
• Went to the university of Vienna, where he
studied botany and learned the Scientific Method
• Worked with pure lines of peas for eight years
• Prior to Mendel, heredity was regarded as a "blending"
process and the offspring were essentially a "dilution“ of the different
parental characteristics.
 Mendel’s peas
• Mendel looked at seven traits or characteristics of pea plants:
• In 1866 he published Experiments in Plant Hybridization, (Versuche
über Pflanzen-Hybriden) in which he established his three
Principles of Inheritance
• He tried to repeat his work
in another plant, but didn’t
work because the plant
reproduced asexually! If…
• Work was largely ignored for
34 years, until 1900, when
3 independent botanists
rediscovered Mendel’s work.
• Mendel was the first biologist to use Mathematics – to explain
his results quantitatively.
• Mendel predicted
The concept of genes
That genes occur in pairs
That one gene of each pair is
present in the gametes
 Genetics terms you need to know:
• Gene – a unit of heredity;
a section of DNA sequence
encoding a single protein
• Genome – the entire set
of genes in an organism

• Alleles – two genes that occupy the same position on

homologous chromosomes and that cover the same trait (like
‘flavors’ of a trait).
• Locus – a fixed location on a strand of DNA where a gene or one
of its alleles is located.
• Homozygous – having identical genes (one from each parent) for
a particular characteristic.
• Heterozygous – having two different genes for a particular
characteristic.

• Dominant – the allele of a gene that masks or suppresses the

expression of an alternate allele; the trait appears in the
heterozygous condition.
• Recessive – an allele that is masked by a dominant allele; does
not appear in the heterozygous condition, only in homozygous.
• Genotype – the genetic makeup of an organisms
• Phenotype – the physical appearance
of an organism (Genotype + environment)

• Monohybrid cross: a genetic cross involving a single pair of genes

(one trait); parents differ by a single trait.
• P = Parental generation
• F1 = First filial generation; offspring from a genetic cross.
• F2 = Second filial generation of a genetic cross
 Monohybrid cross
• Parents differ by a single trait.
• Crossing two pea plants that differ in stem size, one tall one
short
T = allele for Tall
t = allele for dwarf

TT = homozygous tall plant

t t = homozygous dwarf plant

TT  tt
 Monohybrid cross for stem length:
P = parentals TT  tt
true breeding, (tall) (dwarf)

homozygous plants:

Tt
F1 generation (all tall plants)
is heterozygous:
 Punnett square
• A useful tool to do genetic crosses
• For a monohybrid cross, you need a square divided by four….
• Looks like a window pane…
We use the Punnett square to predict the
genotypes and phenotypes of
the offspring.
 Using a Punnett Square
STEPS:
1. determine the genotypes of the parent organisms
2. write down your "cross" (mating)
3. draw a p-square

Parent genotypes:
TT and t t

Cross
TT  tt
 Punnett square
4. "split" the letters of the genotype for each parent & put them "outside" the
p-square
5. determine the possible genotypes of the offspring by filling in the p-square
6. summarize results (genotypes & phenotypes of offspring)

T T
TT  tt
Genotypes:
t Tt Tt 100% T t

Phenotypes:
t Tt Tt 100% Tall plants
 Monohybrid cross: F2 generation
• If you let the F1 generation self-fertilize, the next monohybrid cross
would be:
Tt  Tt
(tall) (tall)
Genotypes:
1 TT= Tall
T t 2 Tt = Tall
1 tt = dwarf
Genotypic ratio= 1:2:1
T TT Tt
Phenotype:
3 Tall
t Tt tt 1 dwarf
Phenotypic ratio= 3:1
 Another example: Flower color
For example, flower color:
P = purple (dominant)

p = white (recessive)

If you cross a homozygous Purple (PP) with a

homozygous white (pp):
PP 
pp

Pp ALL PURPLE (Pp)

Cross the F1 generation:
Pp  Pp

Genotypes:
P p 1 PP
2 Pp
1 pp
P PP Pp
Phenotypes:
3 Purple
p Pp pp 1 White
 Mendel’s Principles
• 1. Principle of Dominance:
One allele masked another, one allele was dominant over
the other in the F1 generation.

• 2. Principle of Segregation:
When gametes are formed, the pairs of hereditary factors
(genes) become separated, so that each sex cell (egg/sperm)
receives only one kind of gene.
 Principle of Independent Assortment
• Based on these results, Mendel postulated the
3. Principle of Independent Assortment:
“Members of one gene pair segregate independently from
other gene pairs during gamete formation”

Genes get shuffled – these many combinations are one of the

advantages of sexual reproduction
 Relation of gene segregation to meiosis…
• There’s a correlation between the movement of chromosomes
in meiosis and the segregation of alleles that occurs in meiosis
 Test cross
When you have an individual with an unknown genotype, you do
a test cross.
Test cross: Cross with a homozygous recessive individual.

For example, a plant with purple flowers can either be PP or Pp…

therefore, you cross the plant with a pp (white flowers,
homozygous recessive)
P ?  pp
 Test cross
• If you get all 100% purple flowers, then the unknown parent
was PP… P P
p Pp Pp

p Pp Pp
•If you get 50% white,
50% purple flowers, P p
then the unknown p
Pp pp
parent was Pp…
p Pp pp
 Beyond Mendelian Genetics: Incomplete
Dominance
Mendel was lucky!
Traits he chose in the
pea plant showed up
very clearly…
One allele was dominant over another, so phenotypes were
easy to recognize.

But sometimes phenotypes are not very obvious…

 Incomplete Dominance
Snapdragon flowers come in many colors.

If you cross a red snapdragon (RR) with a white snapdragon (rr)

You get PINK flowers (Rr)! RR  rr

Genes show incomplete dominance

when the heterozygous phenotype
Rr
is intermediate.
 Incomplete dominance
When F1 generation (all pink flowers) is self
pollinated, the F2 generation is 1:2:1
red, pink, white
Incomplete Dominance

R r
R R R Rr

r Rr rr
 Incomplete dominance
What happens if you cross a pink with a white?

A pink with a red?


 Summary of Genetics
• Chromosomes carry hereditary info (genes)
• Chromosomes (and genes) occur in pairs
• New combinations of genes occur in sexual reproduction
• Monohybrid vs. Dihybrid crosses
• Mendel’s Principles:
– Dominance: one allele masks another
– Segregation: genes become separated in gamete formation
– Independent Assortment: Members of one gene pair segregate independently
from other gene pairs during gamete formation